Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study

We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical-pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV carriers. More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (p < 0.001), although no differences were observed between the two groups in IBCFS or OS.

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Publication Details

Journal
npj Breast Cancer
Published
2025-12-13
DOI
https://doi.org/10.1038/s41523-025-00877-x
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study

Martina Rotolo, Monica Civallero, Angela Toss, Massimo Dominici et al.
npj Breast Cancer
BRCA gene mutations in cancer
article

Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study

Martina Rotolo, Monica Civallero, Angela Toss, Massimo Dominici, Elena Tenedini, Marta Venturelli, Claudia Piombino, Laura Cortesi, Elena Barbieri, Elisabetta Razzaboni, Luigi Marcheselli, Enrico Tagliafico, Federica Domati, Elisa Gasparini, Isabella Marchi
article en

Abstract

We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical-pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV carriers. More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (p < 0.001), although no differences were observed between the two groups in IBCFS or OS.

npj Breast CancerVol. 12(1)
University of Modena and Reggio Emilia (IT), Azienda Unita' Sanitaria Locale Di Modena (IT), Azienda Sanitaria Unità Locale di Reggio Emilia (IT), Azienda Ospedaliero-Universitaria di Modena (IT), Fondazione Intergruppo Italiano Linfomi Onlus (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Associazione Angela Serra per la Ricerca sul Cancro
Openalex Percentile: Top 58%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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